PMID- 37627050 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20230828 IS - 2072-6694 (Print) IS - 2072-6694 (Electronic) IS - 2072-6694 (Linking) VI - 15 IP - 16 DP - 2023 Aug 8 TI - Genetic Profiling of Cell-Free DNA in Liquid Biopsies: A Complementary Tool for the Diagnosis of B-Cell Lymphomas and the Surveillance of Measurable Residual Disease. LID - 10.3390/cancers15164022 [doi] LID - 4022 AB - PURPOSE: To assess the potential value of LiqBio as a complementary tool for diagnosis and surveillance of BCL. METHODS: This prospective multi-center study included 78 patients (25 follicular lymphomas (FL) and 53 large B-cell lymphomas (LBCL)). We performed next-generation sequencing (NGS) of cfDNA LiqBio and paired gDNA tissue biopsies at diagnosis and compared the mutational statuses. Also, through NGS of LiqBio, we identified MRD biomarkers and compared this novel LiqBio-MRD method with PET/CT in detecting MRD at follow-up. RESULTS: We identified mutations in 71% of LiqBio and 95% of tissue biopsies, and found a correlation between variant allele frequency of somatic mutations. Additionally, we identified mutations in 73% of LiqBio from patients with no available tissue samples or no mutations in them. Regarding the utility of LiqBio-MRD as a dynamic monitoring tool, when compared with the PET/CT method, a lower sensitivity was observed for LiqBio-MRD at 92.3% (vs. 100% for PET/CT), but a higher specificity of 91.3% (vs. 86.9% for PET/CT). CONCLUSION: Genetic profiling of tumor cfDNA in plasma LiqBio is a complementary tool for BCL diagnosis and MRD surveillance. FAU - Figaredo, Gloria AU - Figaredo G AUID- ORCID: 0000-0002-4031-9601 AD - Department of Haematology, Hospital Universitario de Toledo, Av. del Rio Guadiana, 45007 Toledo, Spain. FAU - Martin-Munoz, Alejandro AU - Martin-Munoz A AUID- ORCID: 0000-0002-5180-5760 AD - Altum Sequencing SL, Av. Gregorio Peces Barba, 1, 28919 Madrid, Spain. FAU - Barrio, Santiago AU - Barrio S AD - Altum Sequencing SL, Av. Gregorio Peces Barba, 1, 28919 Madrid, Spain. AD - Computational Science Department, Carlos III University, Ronda de Toledo, 1, 28005 Madrid, Spain. FAU - Parrilla, Laura AU - Parrilla L AUID- ORCID: 0000-0003-4740-8057 AD - Department of Haematology, Hospital Universitario de Toledo, Av. del Rio Guadiana, 45007 Toledo, Spain. FAU - Campos-Martin, Yolanda AU - Campos-Martin Y AD - Biobank Department, Hospital Universitario de Toledo, Av. del Rio Guadiana, 45007 Toledo, Spain. FAU - Poza, Maria AU - Poza M AD - Haematology Department, Hospital Universitario 12 de Octubre, Avda. de Cordoba, s/n, 28041 Madrid, Spain. FAU - Rufian, Laura AU - Rufian L AD - Altum Sequencing SL, Av. Gregorio Peces Barba, 1, 28919 Madrid, Spain. AD - Haematology Department, Hospital Universitario 12 de Octubre, Avda. de Cordoba, s/n, 28041 Madrid, Spain. FAU - Algara, Patrocinio AU - Algara P AD - Genetics Department, Hospital Universitario de Toledo, Av. del Rio Guadiana, 45007 Toledo, Spain. FAU - De La Torre, Marina AU - De La Torre M AD - Department of Haematology, Hospital Universitario de Toledo, Av. del Rio Guadiana, 45007 Toledo, Spain. FAU - Jimenez Ubieto, Ana AU - Jimenez Ubieto A AD - Haematology Department, Hospital Universitario 12 de Octubre, Avda. de Cordoba, s/n, 28041 Madrid, Spain. FAU - Martinez-Lopez, Joaquin AU - Martinez-Lopez J AUID- ORCID: 0000-0001-7908-0063 AD - Haematology Department, Hospital Universitario 12 de Octubre, Avda. de Cordoba, s/n, 28041 Madrid, Spain. FAU - Casado, Luis-Felipe AU - Casado LF AD - Department of Haematology, Hospital Universitario de Toledo, Av. del Rio Guadiana, 45007 Toledo, Spain. FAU - Mollejo, Manuela AU - Mollejo M AD - Anatomopathology Department, Hospital Universitario de Toledo, Av. del Rio Guadiana, 45007 Toledo, Spain. LA - eng PT - Journal Article DEP - 20230808 PL - Switzerland TA - Cancers (Basel) JT - Cancers JID - 101526829 PMC - PMC10452485 OTO - NOTNLM OT - B-cell lymphoma OT - NGS OT - PET/CT OT - cfDNA OT - liquid biopsies OT - minimal residual disease COIS- A.M.-M., S.B. and L.R. are employees of Altum Sequencing Co. S.B. and J.M.-L. are equity shareholders of Altum Sequencing Co. J.M.-L. Roche advisory and L.-F.C. Roche research founding. The other authors declare no conflict of interest. EDAT- 2023/08/26 10:41 MHDA- 2023/08/26 10:42 PMCR- 2023/08/08 CRDT- 2023/08/26 01:03 PHST- 2023/07/07 00:00 [received] PHST- 2023/07/26 00:00 [revised] PHST- 2023/08/06 00:00 [accepted] PHST- 2023/08/26 10:42 [medline] PHST- 2023/08/26 10:41 [pubmed] PHST- 2023/08/26 01:03 [entrez] PHST- 2023/08/08 00:00 [pmc-release] AID - cancers15164022 [pii] AID - cancers-15-04022 [pii] AID - 10.3390/cancers15164022 [doi] PST - epublish SO - Cancers (Basel). 2023 Aug 8;15(16):4022. doi: 10.3390/cancers15164022.